Version 2.78

Part Description

LP19757-1   PMP22 gene
The PMP22 gene (peripheral myelin protein 22) [HGNC Gene ID:9118] is located on chromosome 17p12. This gene encodes an integral membrane protein that is a major component of myelin in the peripheral nervous system. Studies suggest two alternately used promoters drive tissue-specific expression. Various mutations of this gene are causes of Charcot-Marie-Tooth disease Type IA, Dejerine-Sottas syndrome, and hereditary neuropathy with liability to pressure palsies. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013] [NCBI Gene ID:5376] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
PMP22 gene deletion+duplication
Property
Find
Time
Pt
System
Bld/Tiss
Scale
Doc
Method
MLPA

Additional Names

Short Name
PMP22 gene Del+Dup Bld/T MLPA
Display Name
PMP22 gene del and dup mutation analysis MLPA Doc (Bld/Tiss)
Consumer Name Alpha Get Info
PMP22 gene deletion/duplication analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.DEL
Type
Laboratory
First Released
Version 2.50
Last Updated
Version 2.66
Change Reason
Based on LOINC Committee review (June 2019), updated the Property from "Prid" to "Find" and Scale from "Nar" to "Doc" to align with the current LOINC model for naming collections of information reported in narrative and/or structured formats.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen PMP22 Delección+duplicación:Hallazgo:Punto temporal:Sangre o tejido:Doc:MLPA
es-MX Spanish (Mexico) Deleción + duplicación del gen PMP22:Hallazgo:Punto temporal:Sangre o tejido:Documento:MLPA
fr-FR French (France) PMP22 gène délétion+duplication:Recherche:Ponctuel:Sang/Tissu:Document:MLPA
it-IT Italian (Italy) PMP22, gene Delezione+duplicazione:Osservazione:Pt:Sangue/Tess:Doc:MLPA
Synonyms: Amplificazione legatura-dipendente multipla della delezione e duplicazione Delezione genetica Gene PMP22 Osservazione Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
tr-TR Turkish (Turkey) PMP22 geni delesyon+duplikasyon:Bulgu:Zmlı:Kan/Dk:Dokm:MLPA
Synonyms: çiftleme
zh-CN Chinese (China) PMP22 基因 缺失+重复:发现:时间点:全血/组织:文档型:多重连接探针扩增技术
Synonyms: Charcot-Marie-Tooth 病;CMT;CMT1A;Dejerine-Sottas 综合征;GAS3;HNPP;PMP-22;Sp110;外周髓鞘蛋白 22;易压迫性麻痹之遗传性神经病变;生长停滞特异性基因 3;腓骨肌萎缩症;遗传性压力敏感性周围神经病;遗传性压力易感性神经病变;遗传性压迫易感性神经病 multiplex ligation-dependent probe amplification;MLPA;多重连接探针扩增;多重连接酶依赖的探针扩增技术;多重连接依赖型探针扩增技术 临床文档型;临床文档;文档;文书;医疗文书;临床医疗文书 全血或组织;血液/组织;血液或组织 分子病理学.基因缺失;分子病理学.缺失;分子病理学试验.基因缺失;分子病理学试验.缺失;分子病理学试验类.缺失;基因缺失;缺失 分子病理学;分子病理学试验 发现是一个原子型临床观察指标，并不是作为印象的概括陈述。体格检查、病史、系统检查及其他此类观察指标的属性均为发现。它们的标尺对于编码型发现可能是名义型，而对于叙述型文本之中所报告的发现，则可能是叙述型。;发现物;所见;结果;结论 基因复制;基因重复;重复 基因缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）+重复（基因重复）;基因缺失+重复 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=75384-8